背景:尿道下裂仍然是影响男性外生殖器的常见先天性异常,其特点是起源不明确,治疗方法复杂。这项研究旨在调查与尿道下裂相关的危险因素,并探讨其与DICER1rs3742330变异的遗传联系。
方法:本研究包括两组:105名尿道下裂男性儿童和111名健康男性儿童作为配对对照。对所有患者和对照组进行详细的病史和体格检查。PCR限制性片段长度多态性用于鉴定DICER1rs3742330变体,分析基因型分布和等位基因频率。Logistic回归分析估计尿道下裂的危险因素。
结果:尿道下裂组的平均年龄为4.56±2.50岁。观察到的最常见的尿道下裂类型是60名儿童(57.14%)的前部型。宫内生长受限,高龄产妇,和妊娠期高血压被确定为尿道下裂的显著危险因素(分别为p=.011,p=.016和p=.041).关于基因研究,病例组和对照组的DICER1rs3742330变异体的基因型和等位基因频率均无显著差异.
结论:DICER1基因的rs3742330变异与阿尔及利亚人群尿道下裂病例无关联。然而,多变量逻辑回归分析确定早产,低出生体重,宫内生长受限,高龄产妇,妊娠期糖尿病,和农村居住地是尿道下裂最重要的独立预测因子。
BACKGROUND: Hypospadias continues to be a prevalent congenital anomaly affecting the male external genitalia, characterized by an unclear origin and complex treatment approaches. This study aimed to investigate the risk factors associated with hypospadias and explore its genetic link with the DICER1
rs3742330 variant.
METHODS: The study involved two groups: 105 male children with hypospadias and 111 healthy male children as matched controls. Detailed history and physical examinations were conducted for all patients and controls. PCR-restriction fragment length polymorphism was utilized to identify the DICER1
rs3742330 variant, analyzing genotype distribution and allele frequency. Logistic regression analysis estimated the risk factors for hypospadias.
RESULTS: The mean age in the hypospadias group was 4.56 ± 2.50 years. The most prevalent type of hypospadias observed was the anterior type in 60 children (57.14%). Intrauterine growth restriction, advanced maternal age, and gestational hypertension were identified as significant risk factors for hypospadias (p = .011, p = .016, and p = .041, respectively). Regarding the genetic study, no significant difference was found in both genotype and allele frequencies of the DICER1
rs3742330 variant between case and control groups.
CONCLUSIONS: The
rs3742330 variant in the DICER1 gene showed no association with hypospadias cases in the Algerian population. However, multivariate logistic regression analysis identified preterm birth, low birth weight, intrauterine growth restriction, advanced maternal age, gestational diabetes, and rural residence as the most significant independent predictors for hypospadias.